SNP Links for Protein (Select 1034610180) - SNP

Links from Protein

Items: 1 to 20 of 82

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Select item 14868507131.

rs1486850713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46634664 (GRCh38)
19:47137921 (GRCh37)
Canonical SPDI:: NC_000019.10:46634663:T:C
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46634664T>C, NC_000019.9:g.47137921T>C, XM_017027504.3:c.19A>G, XM_017027504.2:c.19A>G, XM_017027504.1:c.19A>G, NM_033258.2:c.19A>G, NM_033258.1:c.19A>G, XM_047439725.1:c.19A>G, XM_017027505.1:c.19A>G, XP_016882993.1:p.Lys7Glu, NP_150283.1:p.Lys7Glu, XP_047295681.1:p.Lys7Glu, XP_016882994.1:p.Lys7Glu

Select item 14858672622.

rs1485867262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46634089 (GRCh38)
19:47137346 (GRCh37)
Canonical SPDI:: NC_000019.10:46634088:C:T
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.46634089C>T, NC_000019.9:g.47137346C>T, XM_017027504.3:c.200G>A, XM_017027504.2:c.200G>A, XM_017027504.1:c.200G>A, NM_033258.2:c.200G>A, NM_033258.1:c.200G>A, XM_047439725.1:c.200G>A, XM_017027505.1:c.200G>A, XP_016882993.1:p.Cys67Tyr, NP_150283.1:p.Cys67Tyr, XP_047295681.1:p.Cys67Tyr, XP_016882994.1:p.Cys67Tyr

Select item 14825402963.

rs1482540296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46634672 (GRCh38)
19:47137929 (GRCh37)
Canonical SPDI:: NC_000019.10:46634671:T:C
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634672T>C, NC_000019.9:g.47137929T>C, XM_017027504.3:c.11A>G, XM_017027504.2:c.11A>G, XM_017027504.1:c.11A>G, NM_033258.2:c.11A>G, NM_033258.1:c.11A>G, XM_047439725.1:c.11A>G, XM_017027505.1:c.11A>G, XP_016882993.1:p.Asn4Ser, NP_150283.1:p.Asn4Ser, XP_047295681.1:p.Asn4Ser, XP_016882994.1:p.Asn4Ser

Select item 14751642904.

rs1475164290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46634162 (GRCh38)
19:47137419 (GRCh37)
Canonical SPDI:: NC_000019.10:46634161:G:A
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.46634162G>A, NC_000019.9:g.47137419G>A, XM_017027504.3:c.127C>T, XM_017027504.2:c.127C>T, XM_017027504.1:c.127C>T, NM_033258.2:c.127C>T, NM_033258.1:c.127C>T, XM_047439725.1:c.127C>T, XM_017027505.1:c.127C>T, XP_016882993.1:p.His43Tyr, NP_150283.1:p.His43Tyr, XP_047295681.1:p.His43Tyr, XP_016882994.1:p.His43Tyr

Select item 14744692935.

rs1474469293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46634122 (GRCh38)
19:47137379 (GRCh37)
Canonical SPDI:: NC_000019.10:46634121:G:A
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634122G>A, NC_000019.9:g.47137379G>A, XM_017027504.3:c.167C>T, XM_017027504.2:c.167C>T, XM_017027504.1:c.167C>T, NM_033258.2:c.167C>T, NM_033258.1:c.167C>T, XM_047439725.1:c.167C>T, XM_017027505.1:c.167C>T, XP_016882993.1:p.Ala56Val, NP_150283.1:p.Ala56Val, XP_047295681.1:p.Ala56Val, XP_016882994.1:p.Ala56Val

Select item 14635903216.

rs1463590321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46634187 (GRCh38)
19:47137444 (GRCh37)
Canonical SPDI:: NC_000019.10:46634186:C:T
Gene:: GNG8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.46634187C>T, NC_000019.9:g.47137444C>T, XM_017027504.3:c.102G>A, XM_017027504.2:c.102G>A, XM_017027504.1:c.102G>A, NM_033258.2:c.102G>A, NM_033258.1:c.102G>A, XM_047439725.1:c.102G>A, XM_017027505.1:c.102G>A

Select item 14621359927.

rs1462135992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46634632 (GRCh38)
19:47137889 (GRCh37)
Canonical SPDI:: NC_000019.10:46634631:C:T
Gene:: GNG8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46634632C>T, NC_000019.9:g.47137889C>T, XM_017027504.3:c.51G>A, XM_017027504.2:c.51G>A, XM_017027504.1:c.51G>A, NM_033258.2:c.51G>A, NM_033258.1:c.51G>A, XM_047439725.1:c.51G>A, XM_017027505.1:c.51G>A

Select item 14569296178.

rs1456929617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46634198 (GRCh38)
19:47137455 (GRCh37)
Canonical SPDI:: NC_000019.10:46634197:G:A
Gene:: GNG8 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46634198G>A, NC_000019.9:g.47137455G>A, XM_017027504.3:c.91C>T, XM_017027504.2:c.91C>T, XM_017027504.1:c.91C>T, NM_033258.2:c.91C>T, NM_033258.1:c.91C>T, XM_047439725.1:c.91C>T, XM_017027505.1:c.91C>T, XP_016882993.1:p.Gln31Ter, NP_150283.1:p.Gln31Ter, XP_047295681.1:p.Gln31Ter, XP_016882994.1:p.Gln31Ter

Select item 14486203529.

rs1448620352 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46634117 (GRCh38)
19:47137374 (GRCh37)
Canonical SPDI:: NC_000019.10:46634116:T:C
Gene:: GNG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634117T>C, NC_000019.9:g.47137374T>C, XM_017027504.3:c.172A>G, XM_017027504.2:c.172A>G, XM_017027504.1:c.172A>G, NM_033258.2:c.172A>G, NM_033258.1:c.172A>G, XM_047439725.1:c.172A>G, XM_017027505.1:c.172A>G, XP_016882993.1:p.Asn58Asp, NP_150283.1:p.Asn58Asp, XP_047295681.1:p.Asn58Asp, XP_016882994.1:p.Asn58Asp

Select item 144480896310.

rs1444808963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46634156 (GRCh38)
19:47137413 (GRCh37)
Canonical SPDI:: NC_000019.10:46634155:T:C
Gene:: GNG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.46634156T>C, NC_000019.9:g.47137413T>C, XM_017027504.3:c.133A>G, XM_017027504.2:c.133A>G, XM_017027504.1:c.133A>G, NM_033258.2:c.133A>G, NM_033258.1:c.133A>G, XM_047439725.1:c.133A>G, XM_017027505.1:c.133A>G, XP_016882993.1:p.Lys45Glu, NP_150283.1:p.Lys45Glu, XP_047295681.1:p.Lys45Glu, XP_016882994.1:p.Lys45Glu

Select item 143838739211.

rs1438387392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46634104 (GRCh38)
19:47137361 (GRCh37)
Canonical SPDI:: NC_000019.10:46634103:T:C
Gene:: GNG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46634104T>C, NC_000019.9:g.47137361T>C, XM_017027504.3:c.185A>G, XM_017027504.2:c.185A>G, XM_017027504.1:c.185A>G, NM_033258.2:c.185A>G, NM_033258.1:c.185A>G, XM_047439725.1:c.185A>G, XM_017027505.1:c.185A>G, XP_016882993.1:p.Asp62Gly, NP_150283.1:p.Asp62Gly, XP_047295681.1:p.Asp62Gly, XP_016882994.1:p.Asp62Gly

Select item 142270808712.

rs1422708087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46634624 (GRCh38)
19:47137881 (GRCh37)
Canonical SPDI:: NC_000019.10:46634623:A:G
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634624A>G, NC_000019.9:g.47137881A>G, XM_017027504.3:c.59T>C, XM_017027504.2:c.59T>C, XM_017027504.1:c.59T>C, NM_033258.2:c.59T>C, NM_033258.1:c.59T>C, XM_047439725.1:c.59T>C, XM_017027505.1:c.59T>C, XP_016882993.1:p.Leu20Pro, NP_150283.1:p.Leu20Pro, XP_047295681.1:p.Leu20Pro, XP_016882994.1:p.Leu20Pro

Select item 142095773213.

rs1420957732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46634675 (GRCh38)
19:47137932 (GRCh37)
Canonical SPDI:: NC_000019.10:46634674:T:C
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634675T>C, NC_000019.9:g.47137932T>C, XM_017027504.3:c.8A>G, XM_017027504.2:c.8A>G, XM_017027504.1:c.8A>G, NM_033258.2:c.8A>G, NM_033258.1:c.8A>G, XM_047439725.1:c.8A>G, XM_017027505.1:c.8A>G, XP_016882993.1:p.Asn3Ser, NP_150283.1:p.Asn3Ser, XP_047295681.1:p.Asn3Ser, XP_016882994.1:p.Asn3Ser

Select item 141646448414.

rs1416464484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:46634641 (GRCh38)
19:47137898 (GRCh37)
Canonical SPDI:: NC_000019.10:46634640:C:A
Gene:: GNG8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634641C>A, NC_000019.9:g.47137898C>A, XM_017027504.3:c.42G>T, XM_017027504.2:c.42G>T, XM_017027504.1:c.42G>T, NM_033258.2:c.42G>T, NM_033258.1:c.42G>T, XM_047439725.1:c.42G>T, XM_017027505.1:c.42G>T

Select item 138357528815.

rs1383575288 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:46634665 (GRCh38)
19:47137922 (GRCh37)
Canonical SPDI:: NC_000019.10:46634664:GG:G
Gene:: GNG8 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46634666del, NC_000019.9:g.47137923del, XM_017027504.3:c.18del, XM_017027504.2:c.18del, XM_017027504.1:c.18del, NM_033258.2:c.18del, NM_033258.1:c.18del, XM_047439725.1:c.18del, XM_017027505.1:c.18del, XP_016882993.1:p.Lys7fs, NP_150283.1:p.Lys7fs, XP_047295681.1:p.Lys7fs, XP_016882994.1:p.Lys7fs

Select item 138322344816.

rs1383223448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46634143 (GRCh38)
19:47137400 (GRCh37)
Canonical SPDI:: NC_000019.10:46634142:A:G
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634143A>G, NC_000019.9:g.47137400A>G, XM_017027504.3:c.146T>C, XM_017027504.2:c.146T>C, XM_017027504.1:c.146T>C, NM_033258.2:c.146T>C, NM_033258.1:c.146T>C, XM_047439725.1:c.146T>C, XM_017027505.1:c.146T>C, XP_016882993.1:p.Leu49Pro, NP_150283.1:p.Leu49Pro, XP_047295681.1:p.Leu49Pro, XP_016882994.1:p.Leu49Pro

Select item 135478250217.

rs1354782502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46634649 (GRCh38)
19:47137906 (GRCh37)
Canonical SPDI:: NC_000019.10:46634648:G:A
Gene:: GNG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.46634649G>A, NC_000019.9:g.47137906G>A, XM_017027504.3:c.34C>T, XM_017027504.2:c.34C>T, XM_017027504.1:c.34C>T, NM_033258.2:c.34C>T, NM_033258.1:c.34C>T, XM_047439725.1:c.34C>T, XM_017027505.1:c.34C>T, XP_016882993.1:p.Arg12Cys, NP_150283.1:p.Arg12Cys, XP_047295681.1:p.Arg12Cys, XP_016882994.1:p.Arg12Cys

Select item 134819834718.

rs1348198347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46634164 (GRCh38)
19:47137421 (GRCh37)
Canonical SPDI:: NC_000019.10:46634163:G:A
Gene:: GNG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634164G>A, NC_000019.9:g.47137421G>A, XM_017027504.3:c.125C>T, XM_017027504.2:c.125C>T, XM_017027504.1:c.125C>T, NM_033258.2:c.125C>T, NM_033258.1:c.125C>T, XM_047439725.1:c.125C>T, XM_017027505.1:c.125C>T, XP_016882993.1:p.Thr42Met, NP_150283.1:p.Thr42Met, XP_047295681.1:p.Thr42Met, XP_016882994.1:p.Thr42Met

Select item 130816433019.

rs1308164330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:46634661 (GRCh38)
19:47137918 (GRCh37)
Canonical SPDI:: NC_000019.10:46634660:T:A
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634661T>A, NC_000019.9:g.47137918T>A, XM_017027504.3:c.22A>T, XM_017027504.2:c.22A>T, XM_017027504.1:c.22A>T, NM_033258.2:c.22A>T, NM_033258.1:c.22A>T, XM_047439725.1:c.22A>T, XM_017027505.1:c.22A>T, XP_016882993.1:p.Ile8Phe, NP_150283.1:p.Ile8Phe, XP_047295681.1:p.Ile8Phe, XP_016882994.1:p.Ile8Phe

Select item 130704552320.

rs1307045523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:46634635 (GRCh38)
19:47137892 (GRCh37)
Canonical SPDI:: NC_000019.10:46634634:T:G
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46634635T>G, NC_000019.9:g.47137892T>G, XM_017027504.3:c.48A>C, XM_017027504.2:c.48A>C, XM_017027504.1:c.48A>C, NM_033258.2:c.48A>C, NM_033258.1:c.48A>C, XM_047439725.1:c.48A>C, XM_017027505.1:c.48A>C, XP_016882993.1:p.Glu16Asp, NP_150283.1:p.Glu16Asp, XP_047295681.1:p.Glu16Asp, XP_016882994.1:p.Glu16Asp

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